SVEP1 Q581H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

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SVEP1 Q581H

(SVEP1 Gln581His)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:04am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr9:113259152: 13.7% (1328/9704) in EVS
  • G @ chr9:112298972: 14.1% (18/128) in GET-Evidence
  • Frequency shown in summary reports: 13.7% (1328/9704)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr9:113259152

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr9:113259152

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr9:113259152

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr9:113259152

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr9:113259152

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr9:113259152

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr9:112298973

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr9:112298973

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr9:112298973

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr9:112298973

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr9:112298973

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr9:112298973

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr9:112298973

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr9:112298973

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr9:112298973

 

snp-18

 

Deleted in this revision:

snp-18

 

Other external references
 

    dbSNP
  • rs10817033
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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